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01-12-2021 | Melanoma | Research

Genetic alteration of Chinese patients with rectal mucosal melanoma

Authors: Huan Li, Lujing Yang, Yumei Lai, Xintong Wang, Xinyin Han, Siyao Liu, Dongliang Wang, Xiaojuan Li, Nana Hu, Yan Kong, Lu Si, Zhongwu Li

Published in: BMC Cancer | Issue 1/2021

Abstract

Background

Rectal mucosal melanoma (RMM) is a rare and highly aggressive disease with a poor prognosis. Due to the rarity of RMM, there are few studies focusing on its genetic mechanism. This retrospective study aimed to analyze the genetic spectrum and prognosis of RMM in China and lay a foundation for targeted therapy.

Methods

36 patients with primary RMM from Peking University Cancer Hospital were enrolled in this study. The Next-generation sequencing (NGS) data of the tumor samples were fitted into the TruSight™ Oncology 500 (TSO500) Docker pipeline to detect genomic variants. Then, the univariate and multivariate Cox hazard analysis were performed to evaluate the correlations of the variants with the overall survival (OS), along with Kaplan-Meier and log-rank test to determine their significance.

Results

BRAF mutations, NRG1 deletions and mitotic index were significant prognostic factors in the univariate analysis. In multivariable analysis of the OS-related prognostic factors in primary RMM patients, it revealed 2 significant alterations: BRAF mutations [HR 7.732 (95%CI: 1.735–34.456), P = 0.007] and NRG1 deletions [HR 14.976 (95%CI: 2.305–97.300), P = 0.005].

Conclusions

This is the first study to show genetic alterations exclusively to Chinese patients with RMM. We confirmed genetic alterations of RMM differ from cutaneous melanoma (CM). Our study indicates that BRAF and NRG1 were correlated with a poor prognostic of RMM and may be potential therapeutic targets for RMM treatment.

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Title: Genetic alteration of Chinese patients with rectal mucosal melanoma
Authors: Huan Li
Lujing Yang
Yumei Lai
Xintong Wang
Xinyin Han
Siyao Liu
Dongliang Wang
Xiaojuan Li
Nana Hu
Yan Kong
Lu Si
Zhongwu Li
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Melanoma
Melanoma
Mucosal Melanoma
Published in: BMC Cancer / Issue 1/2021
Electronic ISSN: 1471-2407
DOI: https://doi.org/10.1186/s12885-021-08383-6

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